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Standard

Monocyte count

MXD4 · rs2269486

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−16, with 5 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 408,112 British individuals.

The effect Each copy of the T allele shifted the measure 0.0214 higher (95% confidence interval 0.015-0.027); p = 4 × 10−12.

How common The T allele had a frequency of about 16% in the people studied.

Where it sits Chromosome 4, band 4p16.3 — between genes, 3.7 kb from MXD4.

How common each version is

AT
Korean KRGDB
A 64.1% · T 35.9%
Korean Korea4K
A 62.3% · T 37.7%
Korean Korea1K
A 63.0% · T 37.0%
Japanese ToMMo
A 59.5% · T 40.5%
Vietnamese
A 54.7% · T 45.3%
World gnomAD
A 75.0% · T 25.1%
World 1000 Genomes
A 69.0% · T 31.0%
World TOPMed
A 73.0% · T 27.0%

By ancestry gnomAD

East Asian
A 58.6% · T 41.4%
European (non-Finnish)
A 82.2% · T 17.8%
African / African American
A 62.4% · T 37.6%
South Asian
A 80.2% · T 19.8%
Admixed American (Latino)
A 72.9% · T 27.1%
Middle Eastern
A 69.9% · T 30.1%
Finnish
A 84.9% · T 15.1%
Ashkenazi Jewish
A 78.7% · T 21.3%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A No copy of the version the research linked to Monocyte count. This is the starting point the study compared everyone against.
A/T One copy of the version the research linked to Monocyte count. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Monocyte count. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Quoting this page

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Monocyte count (rs2269486). MyGeneLog™. https://www.mygenelog.com/variants/rs2269486

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